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MCID: 3MT022
MIFTS: 27
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3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia
Categories:
Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia:
Characteristics:Orphanet epidemiological data:59
3-methylglutaconic aciduria type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder highly variable phenotype onset at birth onset in utero in severely affected patients death often in childhood HPO:32
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia:
Onset and clinical course congenital onset phenotypic variability progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
34
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OMIM
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57
3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).
For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950). (616271)
MalaCards based summary : 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia, also known as 3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia, is related to clpb deficiency and 3-methylglutaconic aciduria, type viii. An important gene associated with 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia is CLPB (ClpB Homolog, Mitochondrial AAA ATPase Chaperonin). Affiliated tissues include bone, eye and bone marrow, and related phenotypes are intellectual disability and seizures Disease Ontology : 12 A 3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. UniProtKB/Swiss-Prot : 75 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia: An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development, cataracts, seizures, and recurrent infections. |
Diseases related to 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616271Human phenotypes related to 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia:32 (show all 17)
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MalaCards organs/tissues related to 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia:41
Bone,
Eye,
Bone Marrow
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Genes related to 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia:75 (show all 11)
ClinVar genetic disease variations for 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia:6
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Search
GEO
for disease gene expression data for 3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement, and Neutropenia.
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